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为有先天性心脏病一级亲属的家庭提供咨询的最新情况。

Update on counseling the family with a first-degree relative with a congenital heart defect.

作者信息

Nora J J, Nora A H

机构信息

Department of Genetics and Preventive Medicine, University of Colorado School of Medicine, Denver.

出版信息

Am J Med Genet. 1988 Jan;29(1):137-42. doi: 10.1002/ajmg.1320290117.

DOI:10.1002/ajmg.1320290117
PMID:3344765
Abstract

Updated recurrence risks figures are presented for genetic counseling of families with a congenital heart defect (CHD) in a first-degree relative. Substantial changes are recommended for counseling the family in which a parent has CHD. The risk is much greater if it is the mother rather than the father who has the heart defect. The updated figures for recurrence risks in sibs have been revised, but are not greatly changed. Our central tenet in counseling is to base risk projections on the genetic and teratogenic history in the individual family and pregnancy.

摘要

本文给出了一级亲属中患有先天性心脏病(CHD)家庭的遗传咨询最新复发风险数据。对于父母患有CHD的家庭咨询,建议做出重大改变。如果是母亲而非父亲患有心脏缺陷,风险会大得多。同胞复发风险的最新数据已经修订,但变化不大。我们咨询的核心原则是根据各个家庭和妊娠的遗传及致畸史来预测风险。

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